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Article

Longitudinal evaluation of the hypothalamic-pituitary-testicular function in 8 boys with adrenal hypoplasia congenita (AHC) due to NR0B1 mutations.

PloS one - 1 Jan 2012

Galeotti Caroline, Lahlou Zineb, Goullon Domitille, Sarda-Thibault Hélène, Cahen-Varsaux Juliette, Bignon-Topalovic Joëlle, Bashamboo Anu, McElreavey Ken, Brauner Raja

Abstract excerpt

BACKGROUND: Boys carrying mutations in the NR0B1 gene develop adrenal hypoplasia congenita (AHC) and impaired sexual development due to the combination of hypogonadotropic hypogonadism (HH) and primary defects in spermatogenesis. METHODS: We analysed the evolution of hypothalamic-pituitary-testicular function of 8 boys with AHC due to NR0B1 mutations. Our objective was to characterize and monitor the progressive...

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Share to Adrenal Hyperplasia, Congenital
Share to Adrenal Insufficiency

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DAX-1 Orphan Nuclear Receptor

Share to DNA Primers

Share to Genetic Diseases, X-Linked

Share to Hypothalamo-Hypophyseal System

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Source

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Identifiers

PMID: 22761912
DOI: 10.1371/journal.pone.0039828
PMCID: PMC3384599

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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